SNP Links for Protein (Select 33149320) - SNP

Select item 14890543871.

rs1489054387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:102809698 (GRCh38)
4:103730855 (GRCh37)
Canonical SPDI:: NC_000004.12:102809697:G:A
Gene:: UBE2D3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.102809698G>A, NC_000004.11:g.103730855G>A, NM_003340.6:c.94C>T, NM_181892.4:c.94C>T, NM_181892.3:c.94C>T, NM_181886.3:c.94C>T, NM_181887.3:c.94C>T, NM_181887.2:c.94C>T, NM_181888.3:c.94C>T, NM_181890.3:c.94C>T, NM_181890.2:c.94C>T, NM_181891.3:c.94C>T, NM_181891.2:c.94C>T, NM_181893.3:c.100C>T, NM_181893.2:c.100C>T, XM_024454202.2:c.94C>T, XM_024454202.1:c.94C>T, NM_181889.2:c.94C>T, NM_001300795.2:c.7C>T, NM_001300795.1:c.7C>T, NP_003331.1:p.His32Tyr, NP_871621.1:p.His32Tyr, NP_871615.1:p.His32Tyr, NP_871616.1:p.His32Tyr, NP_871617.1:p.His32Tyr, NP_871619.1:p.His32Tyr, NP_871620.1:p.His32Tyr, NP_871622.1:p.His34Tyr, XP_024309970.1:p.His32Tyr, NP_871618.1:p.His32Tyr, NP_001287724.1:p.His3Tyr

Select item 14885742482.

rs1488574248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:102799431 (GRCh38)
4:103720588 (GRCh37)
Canonical SPDI:: NC_000004.12:102799430:C:T
Gene:: UBE2D3 (Varview), LOC102723704 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.102799431C>T, NC_000004.11:g.103720588C>T, NM_003340.6:c.374G>A, NM_181892.4:c.374G>A, NM_181892.3:c.374G>A, NM_181886.3:c.374G>A, NM_181887.3:c.374G>A, NM_181887.2:c.374G>A, NM_181888.3:c.374G>A, NM_181890.3:c.374G>A, NM_181890.2:c.374G>A, NM_181891.3:c.374G>A, NM_181891.2:c.374G>A, NM_181893.3:c.380G>A, NM_181893.2:c.380G>A, XM_024454202.2:c.374G>A, XM_024454202.1:c.374G>A, NM_181889.2:c.374G>A, NM_001300795.2:c.287G>A, NM_001300795.1:c.287G>A, NR_125932.1:n.1362C>T, NP_003331.1:p.Arg125Gln, NP_871621.1:p.Arg125Gln, NP_871615.1:p.Arg125Gln, NP_871616.1:p.Arg125Gln, NP_871617.1:p.Arg125Gln, NP_871619.1:p.Arg125Gln, NP_871620.1:p.Arg125Gln, NP_871622.1:p.Arg127Gln, XP_024309970.1:p.Arg125Gln, NP_871618.1:p.Arg125Gln, NP_001287724.1:p.Arg96Gln

Select item 14567142833.

rs1456714283 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:102802599 (GRCh38)
4:103723756 (GRCh37)
Canonical SPDI:: NC_000004.12:102802598:T:C
Gene:: UBE2D3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000004.12:g.102802599T>C, NC_000004.11:g.103723756T>C, NM_003340.6:c.160A>G, NM_181892.4:c.160A>G, NM_181892.3:c.160A>G, NM_181886.3:c.160A>G, NM_181887.3:c.160A>G, NM_181887.2:c.160A>G, NM_181888.3:c.160A>G, NM_181890.3:c.160A>G, NM_181890.2:c.160A>G, NM_181891.3:c.160A>G, NM_181891.2:c.160A>G, NM_181893.3:c.166A>G, NM_181893.2:c.166A>G, XM_024454202.2:c.160A>G, XM_024454202.1:c.160A>G, NM_181889.2:c.160A>G, NM_001300795.2:c.73A>G, NM_001300795.1:c.73A>G, NP_003331.1:p.Ile54Val, NP_871621.1:p.Ile54Val, NP_871615.1:p.Ile54Val, NP_871616.1:p.Ile54Val, NP_871617.1:p.Ile54Val, NP_871619.1:p.Ile54Val, NP_871620.1:p.Ile54Val, NP_871622.1:p.Ile56Val, XP_024309970.1:p.Ile54Val, NP_871618.1:p.Ile54Val, NP_001287724.1:p.Ile25Val

Select item 14511958874.

rs1451195887 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:102802612 (GRCh38)
4:103723769 (GRCh37)
Canonical SPDI:: NC_000004.12:102802611:T:C
Gene:: UBE2D3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.102802612T>C, NC_000004.11:g.103723769T>C, NM_003340.6:c.147A>G, NM_181892.4:c.147A>G, NM_181892.3:c.147A>G, NM_181886.3:c.147A>G, NM_181887.3:c.147A>G, NM_181887.2:c.147A>G, NM_181888.3:c.147A>G, NM_181890.3:c.147A>G, NM_181890.2:c.147A>G, NM_181891.3:c.147A>G, NM_181891.2:c.147A>G, NM_181893.3:c.153A>G, NM_181893.2:c.153A>G, XM_024454202.2:c.147A>G, XM_024454202.1:c.147A>G, NM_181889.2:c.147A>G, NM_001300795.2:c.60A>G, NM_001300795.1:c.60A>G

Select item 14464688705.

rs1446468870 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:102801497 (GRCh38)
4:103722654 (GRCh37)
Canonical SPDI:: NC_000004.12:102801496:A:G
Gene:: UBE2D3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.102801497A>G, NC_000004.11:g.103722654A>G, NM_003340.6:c.261T>C, NM_181892.4:c.261T>C, NM_181892.3:c.261T>C, NM_181886.3:c.261T>C, NM_181887.3:c.261T>C, NM_181887.2:c.261T>C, NM_181888.3:c.261T>C, NM_181890.3:c.261T>C, NM_181890.2:c.261T>C, NM_181891.3:c.261T>C, NM_181891.2:c.261T>C, NM_181893.3:c.267T>C, NM_181893.2:c.267T>C, XM_024454202.2:c.261T>C, XM_024454202.1:c.261T>C, NM_181889.2:c.261T>C, NM_001300795.2:c.174T>C, NM_001300795.1:c.174T>C

Select item 14373773996.

rs1437377399 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:102801512 (GRCh38)
4:103722669 (GRCh37)
Canonical SPDI:: NC_000004.12:102801511:G:A
Gene:: UBE2D3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.102801512G>A, NC_000004.11:g.103722669G>A, NM_003340.6:c.246C>T, NM_181892.4:c.246C>T, NM_181892.3:c.246C>T, NM_181886.3:c.246C>T, NM_181887.3:c.246C>T, NM_181887.2:c.246C>T, NM_181888.3:c.246C>T, NM_181890.3:c.246C>T, NM_181890.2:c.246C>T, NM_181891.3:c.246C>T, NM_181891.2:c.246C>T, NM_181893.3:c.252C>T, NM_181893.2:c.252C>T, XM_024454202.2:c.246C>T, XM_024454202.1:c.246C>T, NM_181889.2:c.246C>T, NM_001300795.2:c.159C>T, NM_001300795.1:c.159C>T

Select item 14358126287.

rs1435812628 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAGAC [Show Flanks]
Chromosome:: 4:102797434 (GRCh38)
4:103718592 (GRCh37)
Canonical SPDI:: NC_000004.12:102797434::AAGAC
Gene:: UBE2D3 (Varview), LOC102723704 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,3_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.102797434_102797435insAAGAC, NC_000004.11:g.103718591_103718592insAAGAC, NM_003340.6:c.424_425insGTCTT, NM_181892.4:c.*27_*28insGTCTT, NM_181892.3:c.*27_*28insGTCTT, NM_181886.3:c.424_425insGTCTT, NM_181887.3:c.424_425insGTCTT, NM_181887.2:c.424_425insGTCTT, NM_181888.3:c.424_425insGTCTT, NM_181890.3:c.424_425insGTCTT, NM_181890.2:c.424_425insGTCTT, NM_181891.3:c.424_425insGTCTT, NM_181891.2:c.424_425insGTCTT, NM_181893.3:c.430_431insGTCTT, NM_181893.2:c.430_431insGTCTT, XM_024454202.2:c.424_425insGTCTT, XM_024454202.1:c.424_425insGTCTT, NM_181889.2:c.424_425insGTCTT, NM_001300795.2:c.337_338insGTCTT, NM_001300795.1:c.337_338insGTCTT, NP_003331.1:p.Thr142fs, NP_871615.1:p.Thr142fs, NP_871616.1:p.Thr142fs, NP_871617.1:p.Thr142fs, NP_871619.1:p.Thr142fs, NP_871620.1:p.Thr142fs, NP_871622.1:p.Thr144fs, XP_024309970.1:p.Thr142fs, NP_871618.1:p.Thr142fs, NP_001287724.1:p.Thr113fs

Select item 14143338538.

rs1414333853 [Homo sapiens]

Variant type:: INS
Alleles:: ->TAAGTATTAAGAATTTTTAAATT [Show Flanks]
Chromosome:: 4:102809812 (GRCh38)
4:103730970 (GRCh37)
Canonical SPDI:: NC_000004.12:102809812::TAAGTATTAAGAATTTTTAAATT
Gene:: UBE2D3 (Varview)
Functional Consequence:: inframe_indel,stop_gained,5_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.102809812_102809813insTAAGTATTAAGAATTTTTAAATT, NC_000004.11:g.103730969_103730970insTAAGTATTAAGAATTTTTAAATT, NM_003340.6:c.67_68insAATTTAAAAATTCTTAATACTTA, NM_181892.4:c.67_68insAATTTAAAAATTCTTAATACTTA, NM_181892.3:c.67_68insAATTTAAAAATTCTTAATACTTA, NM_181886.3:c.67_68insAATTTAAAAATTCTTAATACTTA, NM_181887.3:c.67_68insAATTTAAAAATTCTTAATACTTA, NM_181887.2:c.67_68insAATTTAAAAATTCTTAATACTTA, NM_181888.3:c.67_68insAATTTAAAAATTCTTAATACTTA, NM_181890.3:c.67_68insAATTTAAAAATTCTTAATACTTA, NM_181890.2:c.67_68insAATTTAAAAATTCTTAATACTTA, NM_181891.3:c.67_68insAATTTAAAAATTCTTAATACTTA, NM_181891.2:c.67_68insAATTTAAAAATTCTTAATACTTA, NM_181893.3:c.73_74insAATTTAAAAATTCTTAATACTTA, NM_181893.2:c.73_74insAATTTAAAAATTCTTAATACTTA, XM_024454202.2:c.67_68insAATTTAAAAATTCTTAATACTTA, XM_024454202.1:c.67_68insAATTTAAAAATTCTTAATACTTA, NM_181889.2:c.67_68insAATTTAAAAATTCTTAATACTTA, NM_001300795.2:c.-21_-20insAATTTAAAAATTCTTAATACTTA, NM_001300795.1:c.-21_-20insAATTTAAAAATTCTTAATACTTA, NP_003331.1:p.Ala23delinsGluPheLysAsnSerTer, NP_871621.1:p.Ala23delinsGluPheLysAsnSerTer, NP_871615.1:p.Ala23delinsGluPheLysAsnSerTer, NP_871616.1:p.Ala23delinsGluPheLysAsnSerTer, NP_871617.1:p.Ala23delinsGluPheLysAsnSerTer, NP_871619.1:p.Ala23delinsGluPheLysAsnSerTer, NP_871620.1:p.Ala23delinsGluPheLysAsnSerTer, NP_871622.1:p.Ala25delinsGluPheLysAsnSerTer, XP_024309970.1:p.Ala23delinsGluPheLysAsnSerTer, NP_871618.1:p.Ala23delinsGluPheLysAsnSerTer

Select item 14068760679.

rs1406876067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:102809813 (GRCh38)
4:103730970 (GRCh37)
Canonical SPDI:: NC_000004.12:102809812:C:T
Gene:: UBE2D3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
HGVS:: NC_000004.12:g.102809813C>T, NC_000004.11:g.103730970C>T, NM_003340.6:c.67G>A, NM_181892.4:c.67G>A, NM_181892.3:c.67G>A, NM_181886.3:c.67G>A, NM_181887.3:c.67G>A, NM_181887.2:c.67G>A, NM_181888.3:c.67G>A, NM_181890.3:c.67G>A, NM_181890.2:c.67G>A, NM_181891.3:c.67G>A, NM_181891.2:c.67G>A, NM_181893.3:c.73G>A, NM_181893.2:c.73G>A, XM_024454202.2:c.67G>A, XM_024454202.1:c.67G>A, NM_181889.2:c.67G>A, NM_001300795.2:c.-21G>A, NM_001300795.1:c.-21G>A, NP_003331.1:p.Ala23Thr, NP_871621.1:p.Ala23Thr, NP_871615.1:p.Ala23Thr, NP_871616.1:p.Ala23Thr, NP_871617.1:p.Ala23Thr, NP_871619.1:p.Ala23Thr, NP_871620.1:p.Ala23Thr, NP_871622.1:p.Ala25Thr, XP_024309970.1:p.Ala23Thr, NP_871618.1:p.Ala23Thr

Select item 139543028610.

rs1395430286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:102809837 (GRCh38)
4:103730994 (GRCh37)
Canonical SPDI:: NC_000004.12:102809836:G:A
Gene:: UBE2D3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
HGVS:: NC_000004.12:g.102809837G>A, NC_000004.11:g.103730994G>A, NM_003340.6:c.43C>T, NM_181892.4:c.43C>T, NM_181892.3:c.43C>T, NM_181886.3:c.43C>T, NM_181887.3:c.43C>T, NM_181887.2:c.43C>T, NM_181888.3:c.43C>T, NM_181890.3:c.43C>T, NM_181890.2:c.43C>T, NM_181891.3:c.43C>T, NM_181891.2:c.43C>T, NM_181893.3:c.49C>T, NM_181893.2:c.49C>T, XM_024454202.2:c.43C>T, XM_024454202.1:c.43C>T, NM_181889.2:c.43C>T, NM_001300795.2:c.-45C>T, NM_001300795.1:c.-45C>T, NP_003331.1:p.Arg15Cys, NP_871621.1:p.Arg15Cys, NP_871615.1:p.Arg15Cys, NP_871616.1:p.Arg15Cys, NP_871617.1:p.Arg15Cys, NP_871619.1:p.Arg15Cys, NP_871620.1:p.Arg15Cys, NP_871622.1:p.Arg17Cys, XP_024309970.1:p.Arg15Cys, NP_871618.1:p.Arg15Cys

Select item 139479804811.

rs1394798048 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:102799499 (GRCh38)
4:103720656 (GRCh37)
Canonical SPDI:: NC_000004.12:102799498:A:G
Gene:: UBE2D3 (Varview), LOC102723704 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.102799499A>G, NC_000004.11:g.103720656A>G, NM_003340.6:c.306T>C, NM_181892.4:c.306T>C, NM_181892.3:c.306T>C, NM_181886.3:c.306T>C, NM_181887.3:c.306T>C, NM_181887.2:c.306T>C, NM_181888.3:c.306T>C, NM_181890.3:c.306T>C, NM_181890.2:c.306T>C, NM_181891.3:c.306T>C, NM_181891.2:c.306T>C, NM_181893.3:c.312T>C, NM_181893.2:c.312T>C, XM_024454202.2:c.306T>C, XM_024454202.1:c.306T>C, NM_181889.2:c.306T>C, NM_001300795.2:c.219T>C, NM_001300795.1:c.219T>C, NR_125932.1:n.1430A>G

Select item 137061589712.

rs1370615897 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:102802585 (GRCh38)
4:103723742 (GRCh37)
Canonical SPDI:: NC_000004.12:102802584:T:C
Gene:: UBE2D3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.102802585T>C, NC_000004.11:g.103723742T>C, NM_003340.6:c.174A>G, NM_181892.4:c.174A>G, NM_181892.3:c.174A>G, NM_181886.3:c.174A>G, NM_181887.3:c.174A>G, NM_181887.2:c.174A>G, NM_181888.3:c.174A>G, NM_181890.3:c.174A>G, NM_181890.2:c.174A>G, NM_181891.3:c.174A>G, NM_181891.2:c.174A>G, NM_181893.3:c.180A>G, NM_181893.2:c.180A>G, XM_024454202.2:c.174A>G, XM_024454202.1:c.174A>G, NM_181889.2:c.174A>G, NM_001300795.2:c.87A>G, NM_001300795.1:c.87A>G

Select item 135616744613.

rs1356167446 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:102799420 (GRCh38)
4:103720577 (GRCh37)
Canonical SPDI:: NC_000004.12:102799419:T:C
Gene:: UBE2D3 (Varview), LOC102723704 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.102799420T>C, NC_000004.11:g.103720577T>C, NM_003340.6:c.385A>G, NM_181892.4:c.385A>G, NM_181892.3:c.385A>G, NM_181886.3:c.385A>G, NM_181887.3:c.385A>G, NM_181887.2:c.385A>G, NM_181888.3:c.385A>G, NM_181890.3:c.385A>G, NM_181890.2:c.385A>G, NM_181891.3:c.385A>G, NM_181891.2:c.385A>G, NM_181893.3:c.391A>G, NM_181893.2:c.391A>G, XM_024454202.2:c.385A>G, XM_024454202.1:c.385A>G, NM_181889.2:c.385A>G, NM_001300795.2:c.298A>G, NM_001300795.1:c.298A>G, NP_003331.1:p.Thr129Ala, NP_871621.1:p.Thr129Ala, NP_871615.1:p.Thr129Ala, NP_871616.1:p.Thr129Ala, NP_871617.1:p.Thr129Ala, NP_871619.1:p.Thr129Ala, NP_871620.1:p.Thr129Ala, NP_871622.1:p.Thr131Ala, XP_024309970.1:p.Thr129Ala, NP_871618.1:p.Thr129Ala, NP_001287724.1:p.Thr100Ala

Select item 135412014714.

rs1354120147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:102826494 (GRCh38)
4:103747651 (GRCh37)
Canonical SPDI:: NC_000004.12:102826493:C:T
Gene:: UBE2D3 (Varview), UBE2D3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.102826494C>T, NC_000004.11:g.103747651C>T, NG_083449.1:g.1397C>T, NM_003340.6:c.15G>A, NM_181892.4:c.15G>A, NM_181892.3:c.15G>A, NM_181886.3:c.15G>A, NM_181887.3:c.15G>A, NM_181887.2:c.15G>A, NM_181888.3:c.15G>A, NM_181890.3:c.15G>A, NM_181890.2:c.15G>A, NM_181891.3:c.15G>A, NM_181891.2:c.15G>A, XM_024454202.2:c.15G>A, XM_024454202.1:c.15G>A, NM_181889.2:c.15G>A

Select item 128884054915.

rs1288840549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:102799433 (GRCh38)
4:103720590 (GRCh37)
Canonical SPDI:: NC_000004.12:102799432:T:C
Gene:: UBE2D3 (Varview), LOC102723704 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.102799433T>C, NC_000004.11:g.103720590T>C, NM_003340.6:c.372A>G, NM_181892.4:c.372A>G, NM_181892.3:c.372A>G, NM_181886.3:c.372A>G, NM_181887.3:c.372A>G, NM_181887.2:c.372A>G, NM_181888.3:c.372A>G, NM_181890.3:c.372A>G, NM_181890.2:c.372A>G, NM_181891.3:c.372A>G, NM_181891.2:c.372A>G, NM_181893.3:c.378A>G, NM_181893.2:c.378A>G, XM_024454202.2:c.372A>G, XM_024454202.1:c.372A>G, NM_181889.2:c.372A>G, NM_001300795.2:c.285A>G, NM_001300795.1:c.285A>G, NR_125932.1:n.1364T>C

Select item 128090578216.

rs1280905782 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:102809841 (GRCh38)
4:103730998 (GRCh37)
Canonical SPDI:: NC_000004.12:102809840:C:T
Gene:: UBE2D3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.102809841C>T, NC_000004.11:g.103730998C>T, NM_003340.6:c.39G>A, NM_181892.4:c.39G>A, NM_181892.3:c.39G>A, NM_181886.3:c.39G>A, NM_181887.3:c.39G>A, NM_181887.2:c.39G>A, NM_181888.3:c.39G>A, NM_181890.3:c.39G>A, NM_181890.2:c.39G>A, NM_181891.3:c.39G>A, NM_181891.2:c.39G>A, NM_181893.3:c.45G>A, NM_181893.2:c.45G>A, XM_024454202.2:c.39G>A, XM_024454202.1:c.39G>A, NM_181889.2:c.39G>A, NM_001300795.2:c.-49G>A, NM_001300795.1:c.-49G>A

Select item 127366536817.

rs1273665368 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:102801554 (GRCh38)
4:103722711 (GRCh37)
Canonical SPDI:: NC_000004.12:102801553:T:C
Gene:: UBE2D3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.102801554T>C, NC_000004.11:g.103722711T>C, NM_003340.6:c.204A>G, NM_181892.4:c.204A>G, NM_181892.3:c.204A>G, NM_181886.3:c.204A>G, NM_181887.3:c.204A>G, NM_181887.2:c.204A>G, NM_181888.3:c.204A>G, NM_181890.3:c.204A>G, NM_181890.2:c.204A>G, NM_181891.3:c.204A>G, NM_181891.2:c.204A>G, NM_181893.3:c.210A>G, NM_181893.2:c.210A>G, XM_024454202.2:c.204A>G, XM_024454202.1:c.204A>G, NM_181889.2:c.204A>G, NM_001300795.2:c.117A>G, NM_001300795.1:c.117A>G

Select item 123813363118.

rs1238133631 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:102809695 (GRCh38)
4:103730852 (GRCh37)
Canonical SPDI:: NC_000004.12:102809694:A:C
Gene:: UBE2D3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.102809695A>C, NC_000004.11:g.103730852A>C, NM_003340.6:c.97T>G, NM_181892.4:c.97T>G, NM_181892.3:c.97T>G, NM_181886.3:c.97T>G, NM_181887.3:c.97T>G, NM_181887.2:c.97T>G, NM_181888.3:c.97T>G, NM_181890.3:c.97T>G, NM_181890.2:c.97T>G, NM_181891.3:c.97T>G, NM_181891.2:c.97T>G, NM_181893.3:c.103T>G, NM_181893.2:c.103T>G, XM_024454202.2:c.97T>G, XM_024454202.1:c.97T>G, NM_181889.2:c.97T>G, NM_001300795.2:c.10T>G, NM_001300795.1:c.10T>G, NP_003331.1:p.Trp33Gly, NP_871621.1:p.Trp33Gly, NP_871615.1:p.Trp33Gly, NP_871616.1:p.Trp33Gly, NP_871617.1:p.Trp33Gly, NP_871619.1:p.Trp33Gly, NP_871620.1:p.Trp33Gly, NP_871622.1:p.Trp35Gly, XP_024309970.1:p.Trp33Gly, NP_871618.1:p.Trp33Gly, NP_001287724.1:p.Trp4Gly

Select item 123048208519.

rs1230482085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:102801524 (GRCh38)
4:103722681 (GRCh37)
Canonical SPDI:: NC_000004.12:102801523:A:G
Gene:: UBE2D3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.102801524A>G, NC_000004.11:g.103722681A>G, NM_003340.6:c.234T>C, NM_181892.4:c.234T>C, NM_181892.3:c.234T>C, NM_181886.3:c.234T>C, NM_181887.3:c.234T>C, NM_181887.2:c.234T>C, NM_181888.3:c.234T>C, NM_181890.3:c.234T>C, NM_181890.2:c.234T>C, NM_181891.3:c.234T>C, NM_181891.2:c.234T>C, NM_181893.3:c.240T>C, NM_181893.2:c.240T>C, XM_024454202.2:c.234T>C, XM_024454202.1:c.234T>C, NM_181889.2:c.234T>C, NM_001300795.2:c.147T>C, NM_001300795.1:c.147T>C

Select item 122465188520.

rs1224651885 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:102799424 (GRCh38)
4:103720581 (GRCh37)
Canonical SPDI:: NC_000004.12:102799423:A:T
Gene:: UBE2D3 (Varview), LOC102723704 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant
HGVS:: NC_000004.12:g.102799424A>T, NC_000004.11:g.103720581A>T, NM_003340.6:c.381T>A, NM_181892.4:c.381T>A, NM_181892.3:c.381T>A, NM_181886.3:c.381T>A, NM_181887.3:c.381T>A, NM_181887.2:c.381T>A, NM_181888.3:c.381T>A, NM_181890.3:c.381T>A, NM_181890.2:c.381T>A, NM_181891.3:c.381T>A, NM_181891.2:c.381T>A, NM_181893.3:c.387T>A, NM_181893.2:c.387T>A, XM_024454202.2:c.381T>A, XM_024454202.1:c.381T>A, NM_181889.2:c.381T>A, NM_001300795.2:c.294T>A, NM_001300795.1:c.294T>A, NP_003331.1:p.Tyr127Ter, NP_871621.1:p.Tyr127Ter, NP_871615.1:p.Tyr127Ter, NP_871616.1:p.Tyr127Ter, NP_871617.1:p.Tyr127Ter, NP_871619.1:p.Tyr127Ter, NP_871620.1:p.Tyr127Ter, NP_871622.1:p.Tyr129Ter, XP_024309970.1:p.Tyr127Ter, NP_871618.1:p.Tyr127Ter, NP_001287724.1:p.Tyr98Ter

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